#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
LANCL1	10314	broad.mit.edu	37	2	211302429	211302429	+	Silent	SNP	G	G	A			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr2:211302429G>A	ENST00000443314.1	-	6	1200	c.858C>T	c.(856-858)ctC>ctT	p.L286L	LANCL1_ENST00000431941.2_Silent_p.L286L|LANCL1_ENST00000233714.4_Silent_p.L286L|LANCL1_ENST00000441020.3_Silent_p.L286L|AC007970.1_ENST00000420418.1_RNA|AC007970.1_ENST00000433296.1_RNA|LANCL1_ENST00000450366.2_Silent_p.L286L			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	286					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|G-protein coupled receptor activity (GO:0004930)|glutathione binding (GO:0043295)|low-density lipoprotein particle receptor binding (GO:0050750)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		AGGCCTGGATGAGCATGTAGA	0.358																																						ENST00000443314.1																			0				breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						c.(856-858)ctC>ctT		LanC lantibiotic synthetase component C-like 1 (bacterial)							63.0	62.0	63.0					2																	211302429		2203	4300	6503	SO:0001819	synonymous_variant	10314					cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding	g.chr2:211302429G>A	Y11395	CCDS2392.1	2q33-q35	2008-05-23	2001-12-04		ENSG00000115365	ENSG00000115365			6508	protein-coding gene	gene with protein product		604155	"""LanC (bacterial lantibiotic synthetase component C)-like 1"""	GPR69A		9512664	Standard	NM_001136574		Approved	p40	uc010zjh.2	O43813	OTTHUMG00000132991	ENST00000443314.1:c.858C>T	2.37:g.211302429G>A						LANCL1_ENST00000233714.4_Silent_p.L286L|AC007970.1_ENST00000420418.1_RNA|LANCL1_ENST00000450366.2_Silent_p.L286L|LANCL1_ENST00000441020.3_Silent_p.L286L|LANCL1_ENST00000431941.2_Silent_p.L286L|AC007970.1_ENST00000433296.1_RNA	p.L286L			O43813	LANC1_HUMAN		Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)	6	1200	-			286						Silent	SNP	ENST00000443314.1	37	c.858C>T	CCDS2392.1																																																																																				0.358	LANCL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336817.1	NM_006055		5	37	0	0	0	1	0	5	37				
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs375625296		TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr17:21731144T>G	ENST00000578713.1	+	1	450	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584755.1_Missense_Mutation_p.L149R					ubiquitin B pseudogene 4									p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542																																						ENST00000584755.1																			18	Substitution - Missense(18)	p.L149R(18)	endometrium(12)|prostate(6)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(445-447)cTg>cGg																																						SO:0001583	missense	23666							g.chr17:21731144T>G	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.446T>G	17.37:g.21731144T>G	ENSP00000464265:p.Leu149Arg					UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR	p.L149R							2	843	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.446T>G																																																																																					0.542	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			4	91	0	0	0	1	0	4	91				
RPS6KC1	26750	broad.mit.edu	37	1	213415627	213415627	+	Missense_Mutation	SNP	A	A	T			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr1:213415627A>T	ENST00000366960.3	+	11	2958	c.2808A>T	c.(2806-2808)ttA>ttT	p.L936F	RPS6KC1_ENST00000543354.1_Missense_Mutation_p.L639F|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.L924F|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.L724F	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	936	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		ACAACATCTTATTGAATGATA	0.398																																						ENST00000366960.3																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43						c.(2806-2808)ttA>ttT		ribosomal protein S6 kinase, 52kDa, polypeptide 1							83.0	86.0	85.0					1																	213415627		2145	4265	6410	SO:0001583	missense	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213415627A>T	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.2808A>T	1.37:g.213415627A>T	ENSP00000355927:p.Leu936Phe					RPS6KC1_ENST00000543354.1_Missense_Mutation_p.L639F|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.L724F|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.L924F|RPS6KC1_ENST00000490299.1_3'UTR	p.L936F	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	11	2958	+			936			Protein kinase 2.		B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	c.2808A>T	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	A	15.84	2.951589	0.53186	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28	5.75	5.75	0.90469	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.88746	0.6520	M	0.69185	2.1	0.53688	D	0.999976	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.89836	0.3999	10	0.87932	D	0	-25.6382	16.0707	0.80928	1.0:0.0:0.0:0.0	.	724;936;924	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	F	724;936;924;639	ENSP00000442306:L724F;ENSP00000355927:L936F;ENSP00000355926:L924F;ENSP00000439282:L639F	ENSP00000355926:L924F	L	+	3	2	RPS6KC1	211482250	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.602000	0.54066	2.194000	0.70268	0.533000	0.62120	TTA		0.398	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		14	119	0	0	0	1	0	14	119				
TBC1D2B	23102	broad.mit.edu	37	15	78290635	78290635	+	Missense_Mutation	SNP	C	C	T	rs200408968		TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr15:78290635C>T	ENST00000300584.3	-	13	2758	c.2759G>A	c.(2758-2760)cGa>cAa	p.R920Q	TBC1D2B_ENST00000492078.1_5'UTR|TBC1D2B_ENST00000409931.3_Missense_Mutation_p.D903N	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	920							Rab GTPase activator activity (GO:0005097)	p.D903N(3)|p.R920Q(1)		breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GTAGGCGCGTCGGTTCCGGAT	0.617																																						ENST00000409931.3																			4	Substitution - Missense(4)	p.D903N(3)|p.R920Q(1)	cervix(2)|upper_aerodigestive_tract(1)|ovary(1)	breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						c.(2707-2709)Gac>Aac		TBC1 domain family, member 2B							39.0	33.0	35.0					15																	78290635		2196	4291	6487	SO:0001583	missense	23102					intracellular	protein binding|Rab GTPase activator activity	g.chr15:78290635C>T	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.2759G>A	15.37:g.78290635C>T	ENSP00000300584:p.Arg920Gln					TBC1D2B_ENST00000492078.1_5'UTR|TBC1D2B_ENST00000300584.3_Missense_Mutation_p.R920Q	p.D903N			Q9UPU7	TBD2B_HUMAN			13	2778	-			0					A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	ENST00000300584.3	37	c.2707G>A	CCDS45314.1	88|88	0.040293040293040296|0.040293040293040296	2|2	0.0040650406504065045|0.0040650406504065045	10|10	0.027624309392265192|0.027624309392265192	8|8	0.013986013986013986|0.013986013986013986	68|68	0.08970976253298153|0.08970976253298153	c|c	22.6|22.6	4.311579|4.311579	0.81358|0.81358	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000418039;ENST00000409931|ENST00000300584	T|T	0.11712|0.09445	2.75|2.98	4.48|4.48	4.48|4.48	0.54585|0.54585	.|.	0.787190|.	0.11177|.	N|.	0.591392|.	T|T	0.00608|0.00608	0.0020|0.0020	.|.	.|.	.|.	0.26703|0.26703	N|N	0.971136|0.971136	B|D	0.30193|0.57257	0.272|0.979	B|P	0.18561|0.51833	0.022|0.681	T|T	0.06807|0.06807	-1.0806|-1.0806	9|8	0.02654|0.23891	T|T	1|0.37	.|.	16.1645|16.1645	0.81745|0.81745	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	903|920	Q9UPU7-2|Q9UPU7	.|TBD2B_HUMAN	N|Q	802;903|920	ENSP00000387165:D903N|ENSP00000300584:R920Q	ENSP00000387165:D903N|ENSP00000300584:R920Q	D|R	-|-	1|2	0|0	TBC1D2B|TBC1D2B	76077690|76077690	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.855000|0.855000	0.48748|0.48748	6.002000|6.002000	0.70693|0.70693	2.033000|2.033000	0.60031|0.60031	0.479000|0.479000	0.44913|0.44913	GAC|CGA		0.617	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079		3	13	0	0	0	1	0	3	13				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	122	0	0	0	1	0	4	122				
MAML3	55534	broad.mit.edu	37	4	140811108	140811108	+	Silent	SNP	C	C	T			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1480-1482)caG>caA		mastermind-like 3 (Drosophila)							14.0	19.0	17.0					4																	140811108		2165	4272	6437	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811108C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1482G>A	4.37:g.140811108C>T						MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q	p.Q494Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2338	-	all_hematologic(180;0.162)		494			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1482G>A	CCDS54805.1																																																																																				0.537	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			4	20	0	0	0	1	0	4	20				
POM121C	100101267	broad.mit.edu	37	7	75066839	75066839	+	Missense_Mutation	SNP	C	C	T	rs587742458	byFrequency	TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr7:75066839C>T	ENST00000257665.5	-	5	1159	c.1160G>A	c.(1159-1161)cGc>cAc	p.R387H	POM121C_ENST00000453279.2_Missense_Mutation_p.R145H|POM121C_ENST00000473168.1_5'Flank			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	387	Pore side. {ECO:0000255}.|Required for targeting to the nucleus and nuclear pore complex.|Ser-rich.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						AATGGCATTGCGGCTGGAGCT	0.502													.|||	2	0.000399361	0.0	0.0	5008	,	,		16806	0.0		0.0	False		,,,				2504	0.002					ENST00000453279.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(433-435)cGc>cAc		POM121 transmembrane nucleoporin C							203.0	207.0	205.0					7																	75066839		2203	4300	6503	SO:0001583	missense	100101267				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	g.chr7:75066839C>T		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"""POM121 membrane glycoprotein C"""			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.1160G>A	7.37:g.75066839C>T	ENSP00000257665:p.Arg387His					POM121C_ENST00000257665.5_Missense_Mutation_p.R387H	p.R145H	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN			7	1298	-			387			Pore side (Potential).|Pro-rich.|Required for targeting to the nucleus and nuclear pore complex.		O75115|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000257665.5	37	c.434G>A		.	.	.	.	.	.	.	.	.	.	C	21.1	4.091739	0.76756	.	.	ENSG00000135213	ENST00000257665;ENST00000453279;ENST00000439629	T;T;T	0.20881	2.04;2.04;2.04	4.17	4.17	0.49024	.	0.000000	0.42294	D	0.000726	T	0.33527	0.0866	M	0.64567	1.98	0.39228	D	0.963624	D	0.63880	0.993	P	0.51945	0.685	T	0.35375	-0.9791	10	0.87932	D	0	.	14.0157	0.64523	0.0:1.0:0.0:0.0	.	387	A8CG34	P121C_HUMAN	H	387;145;17	ENSP00000257665:R387H;ENSP00000414208:R145H;ENSP00000410033:R17H	ENSP00000257665:R387H	R	-	2	0	POM121C	74904775	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	5.989000	0.70587	2.050000	0.60909	0.505000	0.49811	CGC		0.502	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		4	174	0	0	0	1	0	4	174				
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C	rs200733272|rs371950649	byFrequency	TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692													g|||	17	0.00339457	0.003	0.0043	5008	,	,		11369	0.004		0.002	False		,,,				2504	0.0041					ENST00000270631.1																			2	Substitution - Missense(2)	p.L22V(2)	endometrium(2)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6						c.(64-66)Ctg>Gtg		parathyroid hormone 2			VAL/LEU	12,4376		0,12,2182	12.0	16.0	14.0		64	3.3	0.0	19		14	11,8561		0,11,4275	no	missense	PTH2	NM_178449.3	32	0,23,6457	CC,CG,GG		0.1283,0.2735,0.1775	possibly-damaging	22/101	49926533	23,12937	2194	4286	6480	SO:0001583	missense	113091				neuropeptide signaling pathway	extracellular region		g.chr19:49926533G>C	AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"""Endogenous ligands"""	30828	protein-coding gene	gene with protein product	"""tuberoinfundibular 39 residues"""	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.64C>G	19.37:g.49926533G>C	ENSP00000270631:p.Leu22Val						p.L22V	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)	1	165	-			22					Q96DJ4	Missense_Mutation	SNP	ENST00000270631.1	37	c.64C>G	CCDS12763.1	.	.	.	.	.	.	.	.	.	.	g	6.292	0.421904	0.11928	0.002735	0.001283	ENSG00000142538	ENST00000270631	.	.	.	4.3	3.26	0.37387	.	0.489236	0.15528	U	0.257640	T	0.26521	0.0648	L	0.27053	0.805	0.09310	N	1	P	0.46142	0.873	B	0.39419	0.299	T	0.08066	-1.0740	9	0.87932	D	0	-7.2733	12.3672	0.55234	0.0:0.1717:0.8283:0.0	.	22	Q96A98	TIP39_HUMAN	V	22	.	ENSP00000270631:L22V	L	-	1	2	PTH2	54618345	0.088000	0.21588	0.012000	0.15200	0.011000	0.07611	-0.504000	0.06375	0.947000	0.37659	-0.370000	0.07254	CTG		0.692	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465366.1	NM_178449		3	12	0	0	0	1	0	3	12				
OR8H3	390152	broad.mit.edu	37	11	55890365	55890365	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr11:55890365A>G	ENST00000313472.3	+	1	517	c.517A>G	c.(517-519)Ata>Gta	p.I173V		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TGACTCAAACATAATTCATCA	0.438																																						ENST00000313472.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42						c.(517-519)Ata>Gta		olfactory receptor, family 8, subfamily H, member 3							252.0	226.0	235.0					11																	55890365		2201	4296	6497	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890365A>G	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.517A>G	11.37:g.55890365A>G	ENSP00000323928:p.Ile173Val						p.I173V	NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN			1	517	+	Esophageal squamous(21;0.00693)		173					Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.517A>G	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	A	0	-2.713031	0.00094	.	.	ENSG00000181761	ENST00000313472	T	0.00099	8.73	3.19	0.0377	0.14197	GPCR, rhodopsin-like superfamily (1);	0.419315	0.20509	N	0.090935	T	0.00039	0.0001	N	0.03253	-0.375	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34502	-0.9826	10	0.02654	T	1	.	5.0106	0.14310	0.355:0.0:0.5102:0.1348	.	173	Q8N146	OR8H3_HUMAN	V	173	ENSP00000323928:I173V	ENSP00000323928:I173V	I	+	1	0	OR8H3	55646941	0.000000	0.05858	0.041000	0.18516	0.339000	0.28857	-0.476000	0.06591	-0.104000	0.12154	0.145000	0.16022	ATA		0.438	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		4	228	0	0	0	1	0	4	228				
DLX4	1748	broad.mit.edu	37	17	48046950	48046950	+	Missense_Mutation	SNP	G	G	A	rs370379441		TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr17:48046950G>A	ENST00000240306.3	+	1	413	c.118G>A	c.(118-120)Gca>Aca	p.A40T	DLX4_ENST00000503410.1_Intron|DLX4_ENST00000505318.2_Missense_Mutation_p.A40T	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	40				MTSLPCPLPGRDASKAVFPDLAPVPSVAAAYPLGLSPTTAA SPNLSYSRPYGHLLSYPYTEPANPGDSYLSCQQPAALSQPL CGPAEHPQELEA -> GGSLSLPPEPLCARCPTKEGAAPRR PGFWGSLETQAATVWRGRHGHFSCRVRLSRGAARYSRRGQG KPGVTISAARLVFKVLSAGPLTHPAGRSRRLPRGHRLKPLS IALSLCLQCPSSVISRPRLSPGPSLSAPPYPKLAPPPVAEL RPPTAGAAVPWLWPSARFLPRVTGPIRVGAPLGAELRLVSP GAVNVGVETLHAE (in Ref. 9). {ECO:0000305}.	multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						CCCTACAACCGCAGCCTCCCC	0.662																																						ENST00000240306.3																			0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						c.(118-120)Gca>Aca		distal-less homeobox 4							88.0	88.0	88.0					17																	48046950		2203	4300	6503	SO:0001583	missense	1748				multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:48046950G>A		CCDS11555.1, CCDS45728.1	17q21.33	2011-06-20			ENSG00000108813	ENSG00000108813		"""Homeoboxes / ANTP class : NKL subclass"""	2917	protein-coding gene	gene with protein product		601911		DLX7, DLX9			Standard	NM_138281		Approved	DLX8, BP1	uc002ipv.3	Q92988	OTTHUMG00000161839	ENST00000240306.3:c.118G>A	17.37:g.48046950G>A	ENSP00000240306:p.Ala40Thr					DLX4_ENST00000503410.1_Intron|DLX4_ENST00000505318.2_Missense_Mutation_p.A40T	p.A40T	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN			1	413	+			40	MTSLPCPLPGRDASKAVFPDLAPVPSVAAAYPLGLSPTTAA SPNLSYSRPYGHLLSYPYTEPANPGDSYLSCQQPAALSQPL CGPAEHPQELEA -> GGSLSLPPEPLCARCPTKEGAAPRR PGFWGSLETQAATVWRGRHGHFSCRVRLSRGAARYSRRGQG KPGVTISAARLVFKVLSAGPLTHPAGRSRRLPRGHRLKPLS IALSLCLQCPSSVISRPRLSPGPSLSAPPYPKLAPPPVAEL RPPTAGAAVPWLWPSARFLPRVTGPIRVGAPLGAELRLVSP GAVNVGVETLHAE (in Ref. 9).				D3DTX2|D3DTX3|O60480|Q13265|Q6PJK0|Q9HBE0	Missense_Mutation	SNP	ENST00000240306.3	37	c.118G>A	CCDS11555.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550093	0.45383	.	.	ENSG00000108813	ENST00000240306	D	0.91351	-2.83	4.01	1.76	0.24704	.	.	.	.	.	T	0.78329	0.4266	N	0.24115	0.695	0.80722	D	1	B	0.23490	0.086	B	0.15870	0.014	T	0.65245	-0.6215	9	0.11794	T	0.64	-2.0E-4	4.6144	0.12418	0.141:0.2216:0.6374:0.0	.	40	Q92988	DLX4_HUMAN	T	40	ENSP00000240306:A40T	ENSP00000240306:A40T	A	+	1	0	DLX4	45401949	0.992000	0.36948	1.000000	0.80357	0.963000	0.63663	0.422000	0.21296	0.820000	0.34516	0.462000	0.41574	GCA		0.662	DLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366214.1			4	135	0	0	0	1	0	4	135				
ZNF438	220929	broad.mit.edu	37	10	31137681	31137681	+	Silent	SNP	G	G	A			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr10:31137681G>A	ENST00000361310.3	-	6	1982	c.1653C>T	c.(1651-1653)agC>agT	p.S551S	ZNF438_ENST00000413025.1_Silent_p.S551S|ZNF438_ENST00000442986.1_Silent_p.S551S|ZNF438_ENST00000452305.1_Silent_p.S541S|ZNF438_ENST00000444692.2_Silent_p.S541S|ZNF438_ENST00000375311.1_Silent_p.S115S|ZNF438_ENST00000331737.6_Silent_p.S541S|ZNF438_ENST00000538351.2_Silent_p.S502S|ZNF438_ENST00000436087.2_Silent_p.S551S			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	551					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TCATGTGTGTGCTCAGGCTGC	0.473																																						ENST00000538351.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1504-1506)agC>agT		zinc finger protein 438							226.0	218.0	221.0					10																	31137681		2203	4300	6503	SO:0001819	synonymous_variant	220929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:31137681G>A	AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.1653C>T	10.37:g.31137681G>A						ZNF438_ENST00000436087.2_Silent_p.S551S|ZNF438_ENST00000331737.6_Silent_p.S541S|ZNF438_ENST00000375311.1_Silent_p.S115S|ZNF438_ENST00000452305.1_Silent_p.S541S|ZNF438_ENST00000361310.3_Silent_p.S551S|ZNF438_ENST00000444692.2_Silent_p.S541S|ZNF438_ENST00000442986.1_Silent_p.S551S|ZNF438_ENST00000413025.1_Silent_p.S551S	p.S502S	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN			7	2260	-		Prostate(175;0.0587)	551					A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Silent	SNP	ENST00000361310.3	37	c.1506C>T	CCDS7168.1																																																																																				0.473	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		5	214	0	0	0	1	0	5	214				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		3	56	0	0	0	1	0	3	56				
TYW1B	441250	broad.mit.edu	37	7	72081809	72081809	+	RNA	SNP	T	T	C	rs201876441	byFrequency	TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr7:72081809T>C	ENST00000435769.2	-	0	1756				TYW1B_ENST00000343721.5_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										GAACTTTCTCTGCAGTAGGTA	0.498																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)							195.0	152.0	165.0					7																	72081809		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72081809T>C	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72081809T>C										Q6NUM6	TYW1B_HUMAN			0	1246	-								A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																						0.498	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		4	51	0	0	0	1	0	4	51				
ZNF512B	57473	broad.mit.edu	37	20	62597735	62597735	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr20:62597735G>A	ENST00000450537.1	-	5	853	c.793C>T	c.(793-795)Ccg>Tcg	p.P265S	ZNF512B_ENST00000369888.1_Missense_Mutation_p.P265S|ZNF512B_ENST00000217130.3_Missense_Mutation_p.P265S			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TTGGTGACCGGCACAGACTTG	0.572																																						ENST00000450537.1																			0				NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33						c.(793-795)Ccg>Tcg		zinc finger protein 512B							380.0	396.0	391.0					20																	62597735		2203	4300	6503	SO:0001583	missense	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62597735G>A	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.793C>T	20.37:g.62597735G>A	ENSP00000393795:p.Pro265Ser					ZNF512B_ENST00000369888.1_Missense_Mutation_p.P265S|ZNF512B_ENST00000217130.3_Missense_Mutation_p.P265S	p.P265S			Q96KM6	Z512B_HUMAN			5	853	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		265					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.793C>T	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	G	3.396	-0.123279	0.06795	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.25414	1.8;1.8;1.8	4.55	0.0704	0.14378	.	0.871399	0.09535	N	0.788968	T	0.14056	0.0340	N	0.21448	0.665	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.31475	-0.9942	10	0.62326	D	0.03	-4.9126	1.5918	0.02656	0.1931:0.1639:0.4745:0.1684	.	265	Q96KM6	Z512B_HUMAN	S	265	ENSP00000358904:P265S;ENSP00000393795:P265S;ENSP00000217130:P265S	ENSP00000217130:P265S	P	-	1	0	ZNF512B	62068179	0.002000	0.14202	0.000000	0.03702	0.027000	0.11550	0.302000	0.19192	0.133000	0.18654	0.650000	0.86243	CCG		0.572	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		6	438	0	0	0	1	0	6	438				
MUC5B	727897	broad.mit.edu	37	11	1269120	1269120	+	Missense_Mutation	SNP	C	C	A			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr11:1269120C>A	ENST00000529681.1	+	31	11068	c.11010C>A	c.(11008-11010)caC>caA	p.H3670Q	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.H3673Q	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3670	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACTACGGCCACTGCCCCAGCA	0.597																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(11017-11019)caC>caA		mucin 5B, oligomeric mucus/gel-forming							53.0	72.0	66.0					11																	1269120		1974	4120	6094	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1269120C>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.11010C>A	11.37:g.1269120C>A	ENSP00000436812:p.His3670Gln					MUC5B_ENST00000529681.1_Missense_Mutation_p.H3670Q|RP11-532E4.2_ENST00000532061.2_RNA	p.H3673Q			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	11077	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3670	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.11019C>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	9.657	1.142995	0.21205	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.15372	2.43;2.62	3.35	1.41	0.22369	.	.	.	.	.	T	0.26085	0.0636	L	0.34521	1.04	0.09310	N	1	D;B	0.63046	0.992;0.148	D;B	0.69824	0.966;0.022	T	0.09400	-1.0676	9	0.87932	D	0	.	7.4236	0.27085	0.0:0.7042:0.0:0.2958	.	4198;3673	A7Y9J9;E9PBJ0	.;.	Q	3670;3673;3642;3575	ENSP00000436812:H3670Q;ENSP00000415793:H3673Q	ENSP00000343037:H3642Q	H	+	3	2	MUC5B	1225696	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	0.786000	0.26844	0.238000	0.21222	-0.616000	0.04050	CAC		0.597	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		12	116	1	0	7.93312e-07	1	8.16645e-07	12	116				
HS3ST3B1	9953	broad.mit.edu	37	17	14204904	14204904	+	Silent	SNP	G	G	A			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr17:14204904G>A	ENST00000360954.2	+	1	505	c.69G>A	c.(67-69)ccG>ccA	p.P23P	RP11-214O1.2_ENST00000583262.1_lincRNA	NM_006041.1	NP_006032.1	Q9Y662	HS3SB_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1	23					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)			large_intestine(3)|lung(3)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		CGCAgccgccgccgcccccgc	0.726																																						ENST00000360954.2																			0				large_intestine(3)|lung(3)|skin(1)	7						c.(67-69)ccG>ccA		heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1							8.0	12.0	10.0					17																	14204904		1894	3804	5698	SO:0001819	synonymous_variant	9953				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	Golgi membrane|integral to plasma membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity	g.chr17:14204904G>A	AF105377	CCDS11167.1	17p12	2007-04-02			ENSG00000125430	ENSG00000125430	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5198	protein-coding gene	gene with protein product		604058				9988767	Standard	NM_006041		Approved	3OST3B1, 30ST3B1	uc002goh.1	Q9Y662	OTTHUMG00000058810	ENST00000360954.2:c.69G>A	17.37:g.14204904G>A							p.P23P	NM_006041.1	NP_006032.1	Q9Y662	HS3SB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)	1	505	+			23					B3KN58|D3DTS6	Silent	SNP	ENST00000360954.2	37	c.69G>A	CCDS11167.1																																																																																				0.726	HS3ST3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129998.1	NM_006041		3	4	0	0	0	1	0	3	4				
RP11-156P1.2	0	broad.mit.edu	37	17	45127107	45127107	+	IGR	SNP	C	C	G	rs374963948		TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr17:45127107C>G	ENST00000571841.1	+	0	889				RP11-156P1.3_ENST00000575173.1_RNA|LRRC37A17P_ENST00000570478.1_RNA																							CCTTCGTTCACCCAAGAGCAT	0.592																																						ENST00000575173.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:45127107C>G																													17.37:g.45127107C>G														0	418	-									RNA	SNP	ENST00000571841.1	37																																																																																						0.592	RP11-156P1.2-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000440447.1			4	75	0	0	0	1	0	4	75				
PROL1	58503	broad.mit.edu	37	4	71275374	71275374	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr4:71275374G>A	ENST00000399575.2	+	3	503	c.329G>A	c.(328-330)aGa>aAa	p.R110K	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	110	Pro-rich.				negative regulation of endopeptidase activity (GO:0010951)|regulation of sensory perception of pain (GO:0051930)|retina homeostasis (GO:0001895)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)|peptidase inhibitor activity (GO:0030414)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				TTCCCACTAAGACCTTACTAT	0.403																																						ENST00000399575.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15						c.(328-330)aGa>aAa		proline rich, lacrimal 1							212.0	202.0	205.0					4																	71275374		1860	4102	5962	SO:0001583	missense	58503				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity	g.chr4:71275374G>A	S83198	CCDS43235.1	4q13.3	2011-10-28	2005-02-07		ENSG00000171199	ENSG00000171199			17279	protein-coding gene	gene with protein product		608936	"""proline rich 1"""			8670737	Standard	NM_021225		Approved	BPLP, PRL1, opiorphin	uc003hfi.3	Q99935	OTTHUMG00000160845	ENST00000399575.2:c.329G>A	4.37:g.71275374G>A	ENSP00000382485:p.Arg110Lys					PROL1_ENST00000514338.1_3'UTR	p.R110K	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN			3	503	+		all_hematologic(202;0.196)	110			Pro-rich.		A8MZ07|P85047	Missense_Mutation	SNP	ENST00000399575.2	37	c.329G>A	CCDS43235.1	.	.	.	.	.	.	.	.	.	.	G	5.150	0.213272	0.09757	.	.	ENSG00000171199	ENST00000399575	.	.	.	1.97	-0.549	0.11829	.	.	.	.	.	T	0.32406	0.0828	L	0.48642	1.525	0.09310	N	1	B	0.27166	0.17	B	0.32583	0.148	T	0.41980	-0.9478	8	0.87932	D	0	.	1.7832	0.03036	0.2956:0.0:0.4074:0.297	.	110	Q99935	PROL1_HUMAN	K	110	.	ENSP00000382485:R110K	R	+	2	0	PROL1	71309963	0.000000	0.05858	0.010000	0.14722	0.027000	0.11550	-0.540000	0.06106	-0.173000	0.10761	0.591000	0.81541	AGA		0.403	PROL1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000362639.1	NM_021225		20	195	0	0	0	1	0	20	195				
SYNE1	23345	broad.mit.edu	37	6	152472814	152472814	+	Silent	SNP	G	G	A			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr6:152472814G>A	ENST00000367255.5	-	135	24925	c.24324C>T	c.(24322-24324)ggC>ggT	p.G8108G	SYNE1_ENST00000341594.5_Silent_p.G7720G|SYNE1_ENST00000265368.4_Silent_p.G8108G|SYNE1_ENST00000448038.1_Silent_p.G8037G|SYNE1_ENST00000423061.1_Silent_p.G8037G|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Silent_p.G2632G|SYNE1_ENST00000354674.4_Silent_p.G263G|SYNE1_ENST00000539504.1_Silent_p.G263G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8108					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTCACGCTGGCCAATAAAAT	0.428										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(24322-24324)ggC>ggT		spectrin repeat containing, nuclear envelope 1							33.0	33.0	33.0					6																	152472814		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152472814G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.24324C>T	6.37:g.152472814G>A		HNSCC(10;0.0054)				SYNE1_ENST00000354674.4_Silent_p.G263G|SYNE1_ENST00000265368.4_Silent_p.G8108G|SYNE1_ENST00000341594.5_Silent_p.G7720G|SYNE1_ENST00000539504.1_Silent_p.G263G|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Silent_p.G8037G|SYNE1_ENST00000423061.1_Silent_p.G8037G|SYNE1_ENST00000356820.4_Silent_p.G2632G	p.G8108G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	135	24925	-		Ovarian(120;0.0955)	8108					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.24324C>T	CCDS5236.2																																																																																				0.428	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		7	28	0	0	0	1	0	7	28				
TMEM144	55314	broad.mit.edu	37	4	159158779	159158779	+	Silent	SNP	A	A	G			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr4:159158779A>G	ENST00000296529.6	+	9	1186	c.666A>G	c.(664-666)gcA>gcG	p.A222A	TMEM144_ENST00000503404.1_3'UTR	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	222						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		GTATATATGCAGGGGCAAGCC	0.323																																						ENST00000296529.6																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19						c.(664-666)gcA>gcG		transmembrane protein 144							56.0	58.0	57.0					4																	159158779		2203	4300	6503	SO:0001819	synonymous_variant	55314					integral to membrane		g.chr4:159158779A>G	AK002017	CCDS3799.1	4q32.1	2008-02-05			ENSG00000164124	ENSG00000164124			25633	protein-coding gene	gene with protein product						12477932	Standard	NM_018342		Approved	FLJ11155	uc003ipx.3	Q7Z5S9	OTTHUMG00000162013	ENST00000296529.6:c.666A>G	4.37:g.159158779A>G						TMEM144_ENST00000503404.1_3'UTR	p.A222A	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN		COAD - Colon adenocarcinoma(41;0.0539)	9	1186	+	all_hematologic(180;0.24)	Renal(120;0.0854)	222					D3DP24|Q49A05|Q9NUT3	Silent	SNP	ENST00000296529.6	37	c.666A>G	CCDS3799.1																																																																																				0.323	TMEM144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365597.1	NM_018342		10	38	0	0	0	1	0	10	38				
ANKS1A	23294	broad.mit.edu	37	6	34935028	34935028	+	Silent	SNP	G	G	A			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr6:34935028G>A	ENST00000360359.3	+	2	348	c.210G>A	c.(208-210)ggG>ggA	p.G70G	ANKS1A_ENST00000535627.1_Silent_p.G70G	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	70					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TGTGGAGAGGGCCAAATGTGA	0.423																																						ENST00000360359.3																			0				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(208-210)ggG>ggA		ankyrin repeat and sterile alpha motif domain containing 1A							212.0	186.0	195.0					6																	34935028		2203	4300	6503	SO:0001819	synonymous_variant	23294					cytoplasm	protein binding	g.chr6:34935028G>A	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.210G>A	6.37:g.34935028G>A						ANKS1A_ENST00000535627.1_Silent_p.G70G	p.G70G	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN			2	348	+			70					A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Silent	SNP	ENST00000360359.3	37	c.210G>A	CCDS4798.1																																																																																				0.423	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		4	121	0	0	0	1	0	4	121				
SBNO2	22904	broad.mit.edu	37	19	1105248	1105248	+	IGR	SNP	G	G	A			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr19:1105248G>A	ENST00000361757.3	-	0	4922				GPX4_ENST00000354171.8_Missense_Mutation_p.D50N|GPX4_ENST00000589115.1_Missense_Mutation_p.D50N	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)						bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAGGACATCGACGGGCACAT	0.682																																						ENST00000354171.8																			0				endometrium(1)|kidney(2)	3						c.(148-150)Gac>Aac		glutathione peroxidase 4	Glutathione(DB00143)						40.0	43.0	42.0					19																	1105248		2023	4156	6179	SO:0001628	intergenic_variant	2879				multicellular organismal development|phospholipid metabolic process		glutathione peroxidase activity|phospholipid-hydroperoxide glutathione peroxidase activity	g.chr19:1105248G>A	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9			19.37:g.1105248G>A						GPX4_ENST00000589115.1_Missense_Mutation_p.D50N	p.D50N	NM_001039847.1|NM_002085.3	NP_001034936.1|NP_002076.2	P36969	GPX4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	255	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	50					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	ENST00000361757.3	37	c.148G>A	CCDS45894.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.710279	0.48517	.	.	ENSG00000167468	ENST00000354171	T	0.03860	3.78	3.79	3.79	0.43588	Thioredoxin-like fold (2);	.	.	.	.	T	0.06462	0.0166	L	0.49256	1.55	0.42091	D	0.991295	B;B;B	0.28378	0.048;0.209;0.209	B;B;B	0.27500	0.014;0.08;0.08	T	0.26087	-1.0113	9	0.44086	T	0.13	.	12.4993	0.55946	0.0:0.0:1.0:0.0	.	23;50;50	P36969-2;Q6PI42;P36969	.;.;GPX4_HUMAN	N	50	ENSP00000346103:D50N	ENSP00000346103:D50N	D	+	1	0	GPX4	1056248	1.000000	0.71417	0.998000	0.56505	0.106000	0.19336	4.237000	0.58681	1.947000	0.56498	0.561000	0.74099	GAC		0.682	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		14	83	0	0	0	1	0	14	83				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		3	56	0	0	0	1	0	3	56				
NAV3	89795	broad.mit.edu	37	12	78443848	78443848	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr12:78443848T>C	ENST00000397909.2	+	10	2272	c.2099T>C	c.(2098-2100)aTg>aCg	p.M700T	NAV3_ENST00000228327.6_Missense_Mutation_p.M700T|NAV3_ENST00000536525.2_Missense_Mutation_p.M700T|RP11-136F16.1_ENST00000549103.1_RNA|NAV3_ENST00000266692.7_Missense_Mutation_p.M700T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	700						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GAAGAGACTATGTCCAGTCTT	0.328										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(2098-2100)aTg>aCg		neuron navigator 3							87.0	84.0	85.0					12																	78443848		1831	4082	5913	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78443848T>C	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.2099T>C	12.37:g.78443848T>C	ENSP00000381007:p.Met700Thr	HNSCC(70;0.22)				NAV3_ENST00000536525.2_Missense_Mutation_p.M700T|NAV3_ENST00000228327.6_Missense_Mutation_p.M700T|NAV3_ENST00000266692.7_Missense_Mutation_p.M700T	p.M700T			Q8IVL0	NAV3_HUMAN			10	2272	+			700					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.2099T>C		.	.	.	.	.	.	.	.	.	.	T	24.6	4.548369	0.86127	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.14144	2.53;2.53;2.53;2.53	5.58	5.58	0.84498	.	0.000000	0.48767	U	0.000174	T	0.38480	0.1042	M	0.75615	2.305	0.80722	D	1	D;D;D	0.89917	1.0;0.99;0.992	D;D;D	0.85130	0.997;0.957;0.974	T	0.11867	-1.0570	9	.	.	.	-19.6633	15.758	0.78051	0.0:0.0:0.0:1.0	.	700;700;700	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	T	700	ENSP00000446132:M700T;ENSP00000381007:M700T;ENSP00000228327:M700T;ENSP00000266692:M700T	.	M	+	2	0	NAV3	76967979	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.127000	0.65507	0.528000	0.53228	ATG		0.328	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		5	39	0	0	0	1	0	5	39				
CYP4F2	8529	broad.mit.edu	37	19	16000403	16000403	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr19:16000403T>C	ENST00000221700.6	-	7	843	c.748A>G	c.(748-750)Acc>Gcc	p.T250A	CYP4F2_ENST00000011989.7_Missense_Mutation_p.T101A	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCATCAGGGGTGAGATAATAC	0.557																																						ENST00000221700.5																			0				NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(748-750)Acc>Gcc		cytochrome P450, family 4, subfamily F, polypeptide 2							117.0	114.0	115.0					19																	16000403		2203	4300	6503	SO:0001583	missense	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:16000403T>C	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.748A>G	19.37:g.16000403T>C	ENSP00000221700:p.Thr250Ala					CYP4F2_ENST00000592328.1_Missense_Mutation_p.T250A|CYP4F2_ENST00000011989.7_Missense_Mutation_p.T101A	p.T250A	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN			7	843	-			250						Missense_Mutation	SNP	ENST00000221700.6	37	c.748A>G	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	t	14.96	2.690354	0.48097	.	.	ENSG00000186115	ENST00000221700;ENST00000392846;ENST00000011989	T;T	0.69926	-0.44;1.56	2.72	2.72	0.32119	.	0.184388	0.34110	U	0.004252	T	0.79137	0.4395	M	0.92738	3.34	0.20489	N	0.999895	P;P	0.47545	0.854;0.897	P;P	0.56648	0.803;0.734	T	0.70443	-0.4870	10	0.87932	D	0	.	5.1112	0.14809	0.2632:0.0:0.0:0.7368	.	101;250	B4DV75;P78329	.;CP4F2_HUMAN	A	250;101;101	ENSP00000221700:T250A;ENSP00000011989:T101A	ENSP00000011989:T101A	T	-	1	0	CYP4F2	15861403	0.984000	0.35163	0.100000	0.21137	0.039000	0.13416	1.034000	0.30204	1.226000	0.43582	0.254000	0.18369	ACC		0.557	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		33	82	0	0	0	1	0	33	82				
DIXDC1	85458	broad.mit.edu	37	11	111853098	111853098	+	Silent	SNP	G	G	A			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr11:111853098G>A	ENST00000440460.2	+	7	1101	c.804G>A	c.(802-804)cgG>cgA	p.R268R	DIXDC1_ENST00000315253.5_Silent_p.R57R|DIXDC1_ENST00000389821.4_3'UTR	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	268	Actin-binding.				camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055)	axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		GAGACTGGCGGCCAGGGAGCC	0.423											OREG0021331	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000440460.2																			0				cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17						c.(802-804)cgG>cgA		DIX domain containing 1							38.0	41.0	40.0					11																	111853098		1857	4097	5954	SO:0001819	synonymous_variant	85458				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity	g.chr11:111853098G>A	AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764			23695	protein-coding gene	gene with protein product		610493				12792787	Standard	NM_001037954		Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	ENST00000440460.2:c.804G>A	11.37:g.111853098G>A			OREG0021331	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1438	DIXDC1_ENST00000315253.5_Silent_p.R57R|DIXDC1_ENST00000389821.4_3'UTR	p.R268R	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)	7	1101	+		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	268			Actin-binding.		A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	Silent	SNP	ENST00000440460.2	37	c.804G>A																																																																																					0.423	DIXDC1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037954		3	26	0	0	0	1	0	3	26				
RP11-206L10.10	0	broad.mit.edu	37	1	745643	745643	+	RNA	DEL	C	C	-	rs200097270	byFrequency	TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr1:745643delC	ENST00000435300.1	-	0	340				RP11-206L10.8_ENST00000447500.1_RNA																							TTCAAAGTGACAGACTGTGGG	0.299													|||unknown(NO_COVERAGE)	135	0.0269569	0.0234	0.0288	5008	,	,		20667	0.0		0.0417	False		,,,				2504	0.0429					ENST00000435300.1																			0																																																			0							g.chr1:745643delC																													1.37:g.745643delC														0	340	-									RNA	DEL	ENST00000435300.1	37																																																																																						0.299	RP11-206L10.10-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000007014.1			5	3						5	3	---	---	---	---
RTN4	57142	broad.mit.edu	37	2	55252907	55252910	+	Frame_Shift_Del	DEL	AAAT	AAAT	-			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr2:55252907_55252910delAAAT	ENST00000337526.6	-	3	2568_2571	c.2325_2328delATTT	c.(2323-2328)tcatttfs	p.SF775fs	RTN4_ENST00000394611.2_Frame_Shift_Del_p.SF569fs|RTN4_ENST00000405240.1_Frame_Shift_Del_p.SF569fs|RTN4_ENST00000404909.1_Frame_Shift_Del_p.SF569fs|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000354474.6_Frame_Shift_Del_p.SF543fs|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357376.3_Frame_Shift_Del_p.SF569fs	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	775					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TCATTGACTCAAATGAAGTCTCAG	0.363																																						ENST00000337526.6																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						c.(2323-2328)tcfs		reticulon 4																																				SO:0001589	frameshift_variant	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55252907_55252910delAAAT	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.2325_2328delATTT	2.37:g.55252907_55252910delAAAT	ENSP00000337838:p.Ser775fs					RTN4_ENST00000357376.3_Frame_Shift_Del_p.SF569fs|RTN4_ENST00000404909.1_Frame_Shift_Del_p.SF569fs|RTN4_ENST00000405240.1_Frame_Shift_Del_p.SF569fs|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000394611.2_Frame_Shift_Del_p.SF569fs|RTN4_ENST00000354474.6_Frame_Shift_Del_p.SF543fs|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000317610.7_Intron	p.SF775fs	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN			3	2568_2571	-			775					O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Frame_Shift_Del	DEL	ENST00000337526.6	37	c.2325_2328delATTT	CCDS42684.1																																																																																				0.363	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			24	89						24	89	---	---	---	---
RP11-324C10.1	0	broad.mit.edu	37	3	172992494	172992494	+	lincRNA	DEL	C	C	-	rs565471684|rs371260857|rs79222726	byFrequency	TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr3:172992494delC	ENST00000447709.1	+	0	216																											aacaaacaaacaaaaacatgt	0.512													|||unknown(STR4?)	1924	0.384185	0.3797	0.3833	5008	,	,		20514	0.5536		0.2406	False		,,,				2504	0.364					ENST00000447709.1																			0																																																			0							g.chr3:172992494delC																													3.37:g.172992494delC														0	216	+									RNA	DEL	ENST00000447709.1	37																																																																																						0.512	RP11-324C10.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000347063.2			4	4						4	4	---	---	---	---
NFE2L3	9603	broad.mit.edu	37	7	26224911	26224914	+	Frame_Shift_Del	DEL	AGAT	AGAT	-	rs371060821|rs367544069		TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr7:26224911_26224914delAGAT	ENST00000056233.3	+	4	1852_1855	c.1593_1596delAGAT	c.(1591-1596)acagatfs	p.TD531fs		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	531					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						TTGAAGACACAGATAGAAACTTGA	0.431																																						ENST00000056233.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						c.(1591-1596)acfs		nuclear factor, erythroid 2-like 3																																				SO:0001589	frameshift_variant	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26224911_26224914delAGAT	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1593_1596delAGAT	7.37:g.26224911_26224914delAGAT	ENSP00000056233:p.Thr531fs						p.TD531fs	NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN			4	1852_1855	+			531					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Frame_Shift_Del	DEL	ENST00000056233.3	37	c.1593_1596delAGAT	CCDS5396.1																																																																																				0.431	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			31	85						31	85	---	---	---	---
FAM66B	100128890	broad.mit.edu	37	8	7191540	7191541	+	lincRNA	DEL	CA	CA	-	rs376658666		TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr8:7191540_7191541delCA	ENST00000606573.1	-	0	703									family with sequence similarity 66, member B																		GGGGTGcacgcacacacacaca	0.53																																						ENST00000606573.1																			0																																																			100128890							g.chr8:7191540_7191541delCA			8p23.1	2013-07-05			ENSG00000215374	ENSG00000215374		"""Long non-coding RNAs"""	28890	non-coding RNA	RNA, long non-coding							Standard	NR_027423		Approved				OTTHUMG00000165383		8.37:g.7191550_7191551delCA														0	703	-									RNA	DEL	ENST00000606573.1	37																																																																																						0.530	FAM66B-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470344.1	NR_027423		8	41						8	41	---	---	---	---
EBLN1	340900	broad.mit.edu	37	10	22498484	22498485	+	In_Frame_Ins	INS	-	-	AGA	rs3059425|rs202062346|rs67043646	byFrequency	TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr10:22498484_22498485insAGA	ENST00000422359.2	-	1	465_466	c.428_429insTCT	c.(427-429)ctg>ctTCTg	p.143_143L>LL		NM_001199938.1	NP_001186867.1	P0CF75	EBLN1_HUMAN	endogenous Bornavirus-like nucleoprotein 1	143																	CAATGCCTATCAGATCACAGCA	0.455														1648	0.329073	0.6135	0.3184	5008	,	,		21634	0.2192		0.2535	False		,,,				2504	0.1431					ENST00000422359.2																			0											c.(427-429)cat>cTCTat		endogenous Bornavirus-like nucleoprotein 1																																				SO:0001652	inframe_insertion	340900							g.chr10:22498484_22498485insAGA	AA813437	CCDS60498.1	10p12.31	2013-01-30			ENSG00000223601	ENSG00000223601			39430	protein-coding gene	gene with protein product	"""endogenous Borna-like N element 1"""	613249				20054395, 20686665	Standard	NM_001199938		Approved		uc021pob.1	P0CF75	OTTHUMG00000017801	ENST00000422359.2:c.426_428dupTCT	10.37:g.22498485_22498487dupAGA	ENSP00000473842:p.Leu143dup						p.143_143H>LY	NM_001199938.1	NP_001186867.1					1	465_466	-								S4R316	In_Frame_Ins	INS	ENST00000422359.2	37	c.428_429insTCT																																																																																					0.455	EBLN1-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047154.3	NM_001199938		4	2						4	2	---	---	---	---
TRAV9-2	28677	broad.mit.edu	37	14	22409533	22409537	+	RNA	DEL	CTCTC	CTCTC	-	rs587678559|rs201742006|rs374912343	byFrequency	TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr14:22409533_22409537delCTCTC	ENST00000390441.2	+	0	102									T cell receptor alpha variable 9-2																		ctctctctctctctctctTTTTTTT	0.41														2067	0.41274	0.3903	0.4697	5008	,	,		17484	0.3373		0.4573	False		,,,				2504	0.4346					ENST00000390441.2																			0																																																			28677							g.chr14:22409533_22409537delCTCTC	AE000659		14q11.2	2012-02-07			ENSG00000211793	ENSG00000211793		"""T cell receptors / TRA locus"""	12154	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000170637		14.37:g.22409533_22409537delCTCTC														0	102	+									RNA	DEL	ENST00000390441.2	37																																																																																						0.410	TRAV9-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409885.1	NG_001332		4	9						4	9	---	---	---	---
NOB1	28987	broad.mit.edu	37	16	69782978	69782980	+	In_Frame_Del	DEL	TCC	TCC	-	rs528891272	byFrequency	TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr16:69782978_69782980delTCC	ENST00000268802.5	-	6	596_598	c.567_569delGGA	c.(565-570)gaggaa>gaa	p.189_190EE>E		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	189	Poly-Glu.				visual perception (GO:0007601)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCCGTTTTCTTCCTCCTCCTCCT	0.522																																						ENST00000268802.5																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(565-570)gaa>ga		NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	28987					nucleus	metal ion binding|protein binding	g.chr16:69782978_69782980delTCC	AB026125	CCDS10884.1	16q22.1	2008-02-05	2006-04-20	2006-04-20	ENSG00000141101	ENSG00000141101			29540	protein-coding gene	gene with protein product	"""nin one binding protein"""	613586	"""PSMD8 binding protein 1"""	PSMD8BP1		16172919	Standard	NM_014062		Approved	NOB1P, ART-4, MST158	uc002exs.4	Q9ULX3	OTTHUMG00000137576	ENST00000268802.5:c.567_569delGGA	16.37:g.69782987_69782989delTCC	ENSP00000268802:p.Glu191del						p.EE189del	NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN			6	596_598	-			189			Poly-Glu.		Q7L6B7|Q7M4M4|Q7Z4B5|Q9NWB0	In_Frame_Del	DEL	ENST00000268802.5	37	c.567_569delGGA	CCDS10884.1																																																																																				0.522	NOB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268958.2	NM_014062		7	83						7	83	---	---	---	---
